Craniosynostosis is a feature of Costello syndrome

K. Nicole Weaver; Marguerite Care; Emily Wakefield; Yuri A. Zarate; Jesse Skoch; Karen W. Gripp; Carlos E. Prada

doi:10.1002/ajmg.a.62620

Craniosynostosis is a feature of Costello syndrome

K. Nicole Weaver, Marguerite Care, Emily Wakefield, Yuri A. Zarate, Jesse Skoch, Karen W. Gripp, Carlos E. Prada

Pediatrics

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.

Original language	English
Pages (from-to)	1280-1286
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	188
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.62620
State	Published - Apr 2022

Bibliographical note

Publisher Copyright:
© 2021 Wiley Periodicals LLC.

Funding

We are grateful to the families of these individuals for participating in this article.

Keywords

Chiari I
Costello syndrome
craniofacial
craniosynostosis
RASopathy

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.62620

Cite this

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title = "Craniosynostosis is a feature of Costello syndrome",

abstract = "Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.",

keywords = "Chiari I, Costello syndrome, craniofacial, craniosynostosis, RASopathy",

author = "Weaver, \{K. Nicole\} and Marguerite Care and Emily Wakefield and Zarate, \{Yuri A.\} and Jesse Skoch and Gripp, \{Karen W.\} and Prada, \{Carlos E.\}",

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year = "2022",

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doi = "10.1002/ajmg.a.62620",

language = "English",

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T1 - Craniosynostosis is a feature of Costello syndrome

AU - Weaver, K. Nicole

AU - Care, Marguerite

AU - Wakefield, Emily

AU - Zarate, Yuri A.

AU - Skoch, Jesse

AU - Gripp, Karen W.

AU - Prada, Carlos E.

PY - 2022/4

Y1 - 2022/4

N2 - Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.

AB - Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.

KW - Chiari I

KW - Costello syndrome

KW - craniofacial

KW - craniosynostosis

KW - RASopathy

UR - https://www.scopus.com/pages/publications/85122008866

UR - https://www.scopus.com/inward/citedby.url?scp=85122008866&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.62620

DO - 10.1002/ajmg.a.62620

M3 - Article

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AN - SCOPUS:85122008866

SN - 1552-4825

VL - 188

SP - 1280

EP - 1286

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

ER -

Craniosynostosis is a feature of Costello syndrome

Abstract

Bibliographical note

Funding

Keywords

ASJC Scopus subject areas

Access to Document

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